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    YAE1 YAE1 maturation factor of ABCE1 [ Homo sapiens (human) ]

    Gene ID: 57002, updated on 2-Nov-2024

    Summary

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    Official Symbol
    YAE1provided by HGNC
    Official Full Name
    YAE1 maturation factor of ABCE1provided by HGNC
    Primary source
    HGNC:HGNC:24857
    See related
    Ensembl:ENSG00000241127 AllianceGenome:HGNC:24857
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CIAB2; GK003; YAE1D1; C7orf36
    Summary
    Involved in protein maturation by [4Fe-4S] cluster transfer. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 3.0), endometrium (RPKM 2.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See YAE1 in Genome Data Viewer
    Location:
    7p14.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (39566404..39612089)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (39723945..39769644)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (39606003..39651688)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:39547614-39548813 Neighboring gene uncharacterized LOC105375237 Neighboring gene YAE1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25876 Neighboring gene MPRA-validated peak6497 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25878 Neighboring gene TMX1 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:39629115-39629662 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18111 Neighboring gene akirin 1 pseudogene Neighboring gene uncharacterized LOC107986785 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:39663047-39663894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25879 Neighboring gene RAS like proto-oncogene A Neighboring gene Sharpr-MPRA regulatory region 6412

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The function of ORAOV1/LTO1, a gene that is overexpressed frequently in cancer: essential roles in the function and biogenesis of the ribosome. Zhai C, et al. Oncogene, 2014 Jan 23. PMID 23318452
    2. The deca-GX3 proteins Yae1-Lto1 function as adaptors recruiting the ABC protein Rli1 for iron-sulfur cluster insertion. Paul VD, et al. Elife, 2015 Jul 16. PMID 26182403, Free PMC Article
    3. Human CIA2A-FAM96A and CIA2B-FAM96B integrate iron homeostasis and maturation of different subsets of cytosolic-nuclear iron-sulfur proteins. Stehling O, et al. Cell Metab, 2013 Aug 6. PMID 23891004, Free PMC Article
    4. ABCE1 is a highly conserved RNA silencing suppressor. Kärblane K, et al. PLoS One, 2015. PMID 25659154, Free PMC Article
    5. Generation and analysis of 280,000 human expressed sequence tags. Hillier LD, et al. Genome Res, 1996 Sep. PMID 8889549

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ39538

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein maturation by [4Fe-4S] cluster transfer IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein YAE1 homolog
    Names
    YAE1, ABCE1 maturation factor
    Yae1 domain containing 1
    yae1 domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001282446.2 → NP_001269375.1  protein YAE1 homolog isoform 2

      See identical proteins and their annotated locations for NP_001269375.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AA157293, AC004837, AK293511, BM767075
      Consensus CDS
      CCDS64630.1
      UniProtKB/Swiss-Prot
      Q9NRH1
      Related
      ENSP00000395777.2, ENST00000432096.2
      Conserved Domains (1) summary
      pfam09811
      Location:45 → 83
      Yae1_N; Essential protein Yae1, N terminal

    2. NM_020192.5 → NP_064577.1  protein YAE1 homolog isoform 1

      See identical proteins and their annotated locations for NP_064577.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF226046, BM767075
      Consensus CDS
      CCDS5459.1
      UniProtKB/Swiss-Prot
      A4D1W4, B4DE83, Q6IAF7, Q8WVZ5, Q9NRH1
      UniProtKB/TrEMBL
      B2RC46
      Related
      ENSP00000223273.2, ENST00000223273.7
      Conserved Domains (1) summary
      pfam09811
      Location:45 → 83
      Yae1_N; Essential protein Yae1, N terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      39566404..39612089
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      39723945..39769644
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NRH1.1 GenPept UniProtKB/Swiss-Prot:Q9NRH1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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